SLC24A5 Mutations Are Associated with Non-Syndromic Oculocutaneous Albinism
نویسندگان
چکیده
منابع مشابه
P gene mutations associated with oculocutaneous albinism type II (OCA2).
Oculocutaneous albinism type II (OCA2) is the most common form of albinism in humans. OCA2 has been previously associated with mutations of the P gene, the human homologue to the murine pink-eyed dilution gene. The P gene encodes a 110 kDa protein containing 12 potential membrane spanning domains and is associated with melanosomal membranes. The specific function of the P protein is currently u...
متن کاملOculocutaneous albinism
Oculocutaneous albinism (OCA) is a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes. The prevalence of all forms of albinism varies considerably worldwide and has been estimated at approximately 1/17,000, suggesting that about 1 in 70 people carry a gene for OCA. The clinical spectrum of OCA ranges, with OCA1A b...
متن کاملOCA5, a novel locus for non-syndromic oculocutaneous albinism, maps to chromosome 4q24.
To the Editor : Oculocutaneous albinism (OCA) is a genetically heterogeneous disorder manifested as a loss of pigmentation in the eyes, skin and hair (1). On the basis of its clinical presentation, OCA can manifest in either isolated or syndromic fashion under a variety of inheritance models (1). To date, four loci have been mapped for recessively inherited isolated OCA, and genes for all of th...
متن کاملTemperature-sensitive tyrosinase associated with peripheral pigmentation in oculocutaneous albinism.
Several types of autosomal recessive oculocutaneous albinism (OCA) are associated with abnormal tyrosinase function and a generalized reduction in or absence of cutaneous and eye melanin. Each is thought to result from a different mutant allele at the tyrosinase locus, with the mutation producing an enzyme with little or no activity in all involved tissues. In this paper, we report a new type o...
متن کاملOculocutaneous albinism type 2
Oculocutaneous albinism represents a group of inherited skin disorders characterized by a generalized reduction of cutaneous, ocular, and pilar pigmentation from the time of birth. Oculocutaneous albinism types I and II are the most common, with several other types described. A defect in the melanin synthesis pathway, resulting in reduced formation of melanin, is responsible for oculocutaneous ...
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ژورنال
عنوان ژورنال: Journal of Investigative Dermatology
سال: 2014
ISSN: 0022-202X
DOI: 10.1038/jid.2013.360